Varaico: Literature-Extracted Genetic Variants

HNRNPH1

115 papers

RefSeq Summary

This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. ...

Pfam Domains

RRM_11aa 13–104UCSCRRM domain

RRM_11aa 113–195UCSCRRM domain

zf-RNPHFaa 255–290UCSCRNPHF zinc finger

RRM_11aa 291–371UCSCRRM domain

Gene Aliases

HGNC Name

heterogeneous nuclear ribonucleoprotein H1

HGNC Previous Symbol

HNRPH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001257293.2

p.K185K

c.555G>A

Surrounding Variants

1 paper

NM_001257293.2

p.K185N

c.555G>T

1 paper

NM_001257293.2

p.K185N

c.555G>C

1 paper

NM_001257293.2

p.F184I

c.550T>A

1 paper

NM_001257293.2

p.I183T

c.548T>C

1 paper

NM_001257293.2

p.I183N

c.548T>A

1 paper

NM_001257293.2

p.R188I

c.563G>T

1 paper

NM_001257293.2

p.R188K

c.563G>A

1 paper

NM_001257293.2

p.I183F

c.547A>T

1 paper

NM_001257293.2

p.I183V

c.547A>G

1 paper

NM_001257293.2

p.I183L

c.547A>C

1 paper

NM_001257293.2

p.E182A

c.545A>C

1 paper

NM_001257293.2

p.E182Q

c.544G>C